DiGeorge Syndrome Symptoms, Causes & Treatment Options

DiGeorge syndrome is a genetic disorder caused by the deletion of a small part of the 22nd chromosome. The symptoms of this disease vary significantly, and it affects many different parts of the body including the heart, roof of the mouth, immune system, kidneys, hearing, and gastrointestinal system.

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Contents

  1. Overview
  2. Symptoms
  3. Potential Causes
  4. Treatment, Prevention and Relief
  5. When to Seek Further Consultation
  6. References

What Is DiGeorge Syndrome?

Summary

DiGeorge syndrome is a disorder caused by accidental deletion of part of the 22nd chromosome. DiGeorge syndrome affects many different systems in the body, from the brain to the urinary system, by affecting the development of the cells that eventually create these organ systems as a person develops in the womb. There is no way to prevent DiGeorge syndrome. The symptoms can sometimes be treated. DiGeorge syndrome often occurs either in families or at random.

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DiGeorge Syndrome Symptoms

Facial features

DiGeorge syndrome affects the development of the face. In particular, the hard palate is affected, and affected individuals are born with mildly elongated faces, almond-shaped eyes, wide noses, and small ears. There are many different facial characteristics that are associated with DiGeorge syndrome. Some of the most common are listed below.

  • Cleft lip/palate: Incomplete closure of the roof of the mouth is a common symptom of babies with DiGeorge syndrome and can frequently be repaired surgically.
  • Small jaw: A small jaw and less pronounced chin are common among patients with DiGeorge syndrome.
  • Almond-shaped eyes: Eyes of children with DiGeorge syndrome may angle upward or downward at the outside edge of the eye.
  • Low set ears: The ears may sit slightly lower on the head than individuals without DiGeorge syndrome.
  • Smooth filtrum on upper lip: It is common for the small folding at the middle of the upper lip (filtrum) to be flat in children with DiGeorge syndrome.

Mental disabilities

Developmental delay, intellectual disability, and learning difficulties are frequently identified in children with DiGeorge syndrome. Children may also have an increased chance of developing autism spectrum disorders, attention disorders like attention deficit disorder, and difficulty with social interaction.

  • Non-verbal learning disability: Over half of individuals with DiGeorge syndrome are found to have relative difficulty with non-verbal learning. Skills like math and abstract reasoning are challenging while reading and memorization are often relatively easier.
  • Social interaction: Individuals with DiGeorge syndrome commonly have difficulty with social interaction and may develop autism in childhood.

Heart and kidney defects

The tissue that eventually develops into the heart is frequently affected by DiGeorge syndrome. The aorta, valves of the heart, and walls of the heart can all be affected by DiGeorge syndrome.

  • Abnormal aortic arch morphology: The aortic arch in DiGeorge syndrome can be narrowed or even duplicated, which can lead to problems with adequate heart function later in life.
  • Narrow heart valve: Without corrective surgery, narrow heart valves can lead to back up of blood from the heart into the abdomen or the legs.
  • Defects in the walls of the heart: A wall in the heart called the septum separates the left side of the heart from the right side of the heart. In some individuals with DiGeorge syndrome, holes may be present in the septum causing irregular blood flow.

Immune deficiencies

The thymus is one of the glandular structures that is affected by DiGeorge syndrome. It teaches the rest of the immune system how to function. When it is absent, it is common to lack a significant and important part of your immune cells. This can lead to improperly functioning immune function and a predisposition to get sick

  • Immunosuppression: In the absence of a thymus, there is a lack of T cells within the body. T cells are cell types that activate other immune cells and alert the body that a virus or bacteria is present and needs to be hunted gotten rid of. Without them, it is significantly more difficult to treat infection.

DiGeorge Syndrome Causes

DiGeorge syndrome is caused by a deletion or missing segment of a chromosome. The body’s DNA, the instructions that tell the body how to grow throughout life, are copied into every cell. Each cell uses the portion of the information that applies to its role in the body. In DiGeorge syndrome, a small portion of one of the chromosomes is missing. Chromosome 22 has a missing section of DNA in an area near the middle of the chromosome called q11.2. The lack of complete information on how to form certain structures in the body leads to problems in many different parts of the body. Certain genes contained on the missing segment of DNA contribute to the loss of function of certain organs. Further, the mutation can occur at different points as the cells grow towards forming a human being. The later the mutation occurs, the fewer cells are affected and the fewer symptoms are experienced.

Genetic defect

DiGeorge syndrome is caused by a known genetic defect. It is most commonly an error in the formation of an egg cell or sperm cell from one of the parents that produces a missing segment of chromosome 22. However, in some cases, a mutation can occur as one cell splits into two, and two splits into four and so on. A single mutation in one of the early cells can cause defects for the cells that are produced by that single cell later on.

  • During formation of eggs or sperm
  • Inherited from a parent
  • Deleted during early development

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Treatment Options, Relief, and Prevention for DiGeorge Syndrome

Treatment

Treatment for DiGeorge syndrome varies dramatically depending on which symptoms an individual has from their chromosome 22 deletion. In mild cases, where the mutation took place later in development, it is possible that mild to moderate treatment can be successful in maximizing the treatment of the disease. In more severe cases, surgery and medical support may be necessary to maximize the health of the individual.

Severe heart disease and cleft palate can be treated in some cases with surgery and certain medications. A predisposition toward infections can be treated with antibiotics.

Prevention

In those that are worried about the possibility of having a child with DiGeorge syndrome, genetic testing is possible and can help select eggs and sperm that do not have the mutation. However, once DiGeorge syndrome occurs through mutation, symptoms can only be treated not prevented. For those at high risk and concerned about the possibility of developing DiGeorge syndrome, screening may be necessary.

When to Seek Further Consultation for DiGeorge Syndrome

DiGeorge syndrome is very rarely diagnosed in adulthood. If you or your child feel as though you have some of the symptoms of DiGeorge syndrome, you should seek medical evaluation. If you or your loved one begins to have chest pain or confusion, you should seek evaluation because the heart and the amount of calcium in the blood can be dangerous and even life-threatening.